A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241070



Internal ID22335028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63066380..63117261hg38UCSC Ensembl
Outerchr20:61697732..61748613hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382779
hg192779
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266973, nssv14266974, nssv14266975, nssv14266976
SamplesNA19238, NA19239, HG00732, NA19240
Known GenesHAR1A, HAR1B, LOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241070
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer